ketendoКлиническая и экспериментальная тиреоидологияClinical and experimental thyroidology1995-54722310-3787Endocrinology Research Centre10.14341/ket12811ketendo-12811Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCASE REPORTSАтипические опухоли в структуре множественного поражения околощитовидных желез у пациента с МЭН-1 синдромомTypical tumors in multiple parathyroid gland lesions in a patient with MEN-1 syndromehttps://orcid.org/0009-0002-0383-5583БагироваХ. В.BagirovaH. V.

Багирова Ханум Вугаровна

117292, Москва, ул. Дм. Ульянова, д. 11

Hanum V. Bagirova, MD

11 Dm. Ulyanova street, 117036 Moscow

hb1998@mail.ruhttps://orcid.org/0000-0002-6013-1462КалетникЕ. И.KaletnikE. I.

Калетник Елена Игоревна

Москва

Elena I. Kaletnik, MD

Moscow

helen2000hkalietnik@gmail.comhttps://orcid.org/0000-0001-7879-8495КимЕ. И.KimE. I.

Ким Екатерина Игоревна

Москва

Ekaterina I. Kim, MD

Moscow

kat-alex2007@mail.ruhttps://orcid.org/0000-0001-5952-5846БибикЕ. Е.BibikE. E.

Бибик Екатерина Евгеньевна, к.м.н.

Москва

Ekaterina E. Bibik, MD, PhD

Moscow

bibikaterina@mail.ruhttps://orcid.org/0000-0002-6822-0435ПастуховаД. А.PastuhovaD. А.

Пастухова Дария Алексеевна 

Москва

Dariya A. Pastuhova, MD

Moscow

pastuhova.dariya@endocrincentr.ruhttps://orcid.org/0000-0001-7965-9454ТарбаеваН. В.TarbaevaN. V.

Тарбаева Наталья Викторовна, к.м.н.

Москва

Natalya V. Tarbaeva, MD, PhD

Moscow

ntarbaeva@inbox.ruhttps://orcid.org/0000-0001-6891-0009УрусоваЛ. С.UrusovaL. S.

Урусова Лилия Сергеевна, д.м.н.

Москва

Liliya S. Urusova, MD, PhD

Moscow

liselivanova89@yandex.ruhttps://orcid.org/0000-0001-6667-062XЕремкинаА. К.EremkinaA. K.

Еремкина Анна Константиновна, к.м.н.

Москва

Anna K. Eremkina, MD, PhD

Moscow

eremkina.anna@endocrincentr.ruhttps://orcid.org/0000-0002-9717-9742МокрышеваН. Г.MokryshevaN. G.

Мокрышева Наталья Георгиевна, д.м.н., профессор, член-корр. РАН

Москва

Natalia G. Mokrysheva, MD, PhD, Professor, corresponding member of the Russian Academy of Sciences

Moscow

parathyroid.enc@gmail.comНациональный медицинский исследовательский центр эндокринологииРоссияEndocrinology Research CentreRussian Federation2024091220242032128Copyright © Багирова Х.В., Калетник Е.И., Ким Е.И., Бибик Е.Е., Пастухова Д.А., Тарбаева Н.В., Урусова Л.С., Еремкина А.К., Мокрышева Н.Г., 20252025Багирова Х.В., Калетник Е.И., Ким Е.И., Бибик Е.Е., Пастухова Д.А., Тарбаева Н.В., Урусова Л.С., Еремкина А.К., Мокрышева Н.Г.Bagirova H.V., Kaletnik E.I., Kim E.I., Bibik E.E., Pastuhova D.А., Tarbaeva N.V., Urusova L.S., Eremkina A.K., Mokrysheva N.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.cet-endojournals.ru/jour/article/view/12811

Синдром множественной эндокринной неоплазии 1 типа (МЭН-1) — наследственная патология, ассоциированная с  мутациями в гене MEN1 и характеризующаяся «классической триадой»: поражением околощитовидных желез (ОЩЖ), островковых клеток поджелудочной железы и передней доли гипофиза. Пенетрантность первичного опухолевого поражения ОЩЖ в рамках МЭН-1 с возрастом достигает 90–100%. Первичный гиперпаратиреоз (ПГПТ) в рамках МЭН-1 синдрома сопровождается полигландулярным поражением, причем опухоли не всегда развиваются синхронно, что обуславливает высокую частоту послеоперационных рецидивов заболевания. При МЭН-1-ассоциированном ПГПТ наиболее часто определяются гиперплазии, реже встречаются множественные аденомы. Рост гиперплазированных клеток при этом может быть диффузным, узловым или диффузно-узловым, что затрудняет дифференциальную диагностику между аденомой и диффузно-узловой гиперплазией с наличием одного доминантного узла. Карциномы и атипические опухоли при МЭН-1 встречаются казуистически редко. Мы представляем описание уникального случая молодого пациента с герминальной мутацией в гене MEN1 (c.684dup), клинически «агрессивным» течением ПГПТ вследствие атипических опухолей ОЩЖ.

Multiple endocrine neoplasia syndrome type 1 (MEN-1) is an inherited disorder associated with mutations in the MEN1 gene and characterized by the «classic triad»: involvement of the parathyroid gland, pancreatic islet cells and anterior pituitary. The penetrance of primary hyperparathyroidism (PHPT) in MEN-1 reaches 90-100% with age. Primary hyperparathyroidism in MEN-1 is associated with polyglandular lesions, and tumors do not always develop synchronously, leading to a high incidence of disease recurrence after surgery. In MEN-1-associated PHPT, hyperplasia is most common and multiple adenomas are less common. The growth of hyperplastic cells may be diffuse, nodular or diffuse-nodular, which complicates the differential diagnosis between adenoma and diffuse-nodular hyperplasia with the presence of a single dominant nodule. Carcinomas and atypical tumors in MEN-1 are casuistically rare. We present the unique case of a young patient with a germline mutation in the MEN1 gene (c.684dup) and clinically «aggressive» course of PHPT due to atypical parathyroid tumors.

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The authors declare that there are no conflicts of interest present.